Q29H (p.Gln29His) variant of FGFR3 (P22607)
Q29H (p.Gln29His) in FGFR3 (P22607) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided; FGFR3-related chondrodysplasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
Q29H (p.Gln29His) variant details
- p.Gln29His
- rs553265665
- ClinGen CA2809686
- cosmic curated COSV10961
- ClinVar RCV002237208
- Likely benign
- not provided; FGFR3-related chondrodysplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- REVEL 0.23
- MetaLR 0.33
- MetaSVM -0.72
- CADD 12.20
- PolyPhen-2 0.07
- SIFT 0.08
- ClinVar: Likely benign (not provided; FGFR3-related chondrodysplasia)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:DAUR population (allele frequency 0.056)
- Structural context available